Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency

HH Akar; T Patiroglu; BN Akyildiz; NU Tekerek; MS Dogan; S Doganay; Mirjam van der Burg; R Dusunsel

doi:10.1016/j.clim.2015.03.014

Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency

HH Akar, T Patiroglu, BN Akyildiz, NU Tekerek, MS Dogan, S Doganay, Mirjam van der Burg, R Dusunsel

Immunology

Research output: Contribution to journal › Article › Academic › peer-review

13 Citations (Scopus)

Abstract

Zeta-chain associated protein 70 kDa deficiency (ZAP70) is a form of severe combined immunodeficiency (SCID). It is caused by defects in the signaling pathways associated with T-lymphocyte activation. ZAP70 deficiency is characterized by a marked reduction in peripheral CD8+ T-cells. In this report, we described two patients with ZAP70 deficiency who presented with recurrent infections, lung tuberculosis (TBC), congenital nephrotic syndrome (CNS), and silent brain infarcts (SBIs) as a common feature. The first patient initially presented with recurrent infections and TBC as in a classic SCID patient. At the age of 4, he was interned with febrile seizure. Cranial magnetic resonance imaging (MRI) showed SBIs. The second patient, an 8-month-old boy, presented with congenital nephrotic syndrome caused by cytomegalovirus (CMV) and he had also SBIs. (C) 2015 Elsevier Inc. All rights reserved.

Original language	Undefined/Unknown
Pages (from-to)	88-91
Number of pages	4
Journal	Clinical Immunology
Volume	158
Issue number	1
DOIs	https://doi.org/10.1016/j.clim.2015.03.014
Publication status	Published - 2015

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EMC MM-02-72-01

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10.1016/j.clim.2015.03.014

Cite this

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title = "Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency",

abstract = "Zeta-chain associated protein 70 kDa deficiency (ZAP70) is a form of severe combined immunodeficiency (SCID). It is caused by defects in the signaling pathways associated with T-lymphocyte activation. ZAP70 deficiency is characterized by a marked reduction in peripheral CD8+ T-cells. In this report, we described two patients with ZAP70 deficiency who presented with recurrent infections, lung tuberculosis (TBC), congenital nephrotic syndrome (CNS), and silent brain infarcts (SBIs) as a common feature. The first patient initially presented with recurrent infections and TBC as in a classic SCID patient. At the age of 4, he was interned with febrile seizure. Cranial magnetic resonance imaging (MRI) showed SBIs. The second patient, an 8-month-old boy, presented with congenital nephrotic syndrome caused by cytomegalovirus (CMV) and he had also SBIs. (C) 2015 Elsevier Inc. All rights reserved.",

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AU - Akar, HH

AU - Patiroglu, T

AU - Akyildiz, BN

AU - Tekerek, NU

AU - Dogan, MS

AU - Doganay, S

AU - van der Burg, Mirjam

AU - Dusunsel, R

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